纯血马和百色马IGF1R基因蛋白编码区序列的多态性分析

[目的]研究纯血马和百色马IGF1R基因成熟蛋白编码区序列的多态性,为揭示马矮小性状的分子机理和马的分子育种提供理论参考。[方法]采集纯血马和百色马的血样各57份,按常规酚仿法抽提DNA。利用DNA混合池和PCR产物直接测序的方法检测IGF1R基因的多态位点,利用PCR-RFLP技术分析这些多态位点在纯血马和百色马中的基因型及其频率分布。[结果]在马IGF1R基因的第2、第5和第16外显子上存在4个多态位点,其中突变179627 T→C为纯血马和百色马共有,且两者在基因型频率上差异不显著;突变212077 G→A为纯血马所独有;突变406 T→C和212 110 G→A为百色马所独有。[结论]马IGF1R基因的多态位点可能与百色马的矮小和纯血马的高大有关。

Polymorphism of Coding Sequence of IGF1R Gene in Baise Horses and Thoroughbred

[Objective] The aim was to study polymorphism of mat-peptide sequence of IGF1R gene in Baise horses and thoroughbred,which would afford reference for the further studies on the dwarf mechanism and molecular breeding in horses.[Method] A total of 57 blood samples of each breed were collected and genomic DNA was extracted by the standard phenol-chloroform method.Five DNA pools of each breed were constituted and polymorphism sites were identified by sequencing PCR products.Frequencies of genotypes and alleles at these sites of each breed were checked by PCR-RFLP.[Result] Four polymorphism sites were identified in exon 2,5 and 16,including mutations of T406C,T179 627C,G212 077A and G212 110A.No difference was found in the frequency of T179 627C between the Baise horses and thoroughbred.The mutation G212 077A was only found in the thoroughbred,and the mutations,T406C and G212 110A,were only checked out in the Baise horses.[Conclusion] Whether these mutations are associated with horse growth needs further studies.